| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68812496G>C | CA381638012 | CPT1A | c.222C>G (p.Tyr74Ter) c.318C>G (p.Tyr106Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812496G>A | CA6152743 | CPT1A | c.222C>T (p.Tyr74=) c.318C>T (p.Tyr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68812496G>T | CA221855 | CPT1A | c.222C>A (p.Tyr74Ter) c.318C>A (p.Tyr106Ter) | ClinVar dbSNP |
| 11 | g.68812496G= | CA3182733621 | CPT1A | c.222C= (p.Tyr74=) c.318C= (p.Tyr106=) | dbSNP |